Endocrine Abstracts

Calcium-containing renal stones, which affect 7% of adults, may be associated with endocrine and metabolic disorders that include primary hyperparathyroidism, renal tubular acidosis, hypercalciuria and hyperoxaluria. In addition, ∼40% of patients with stones have a familial history, although the genetic defects remain to be elucidated. To facilitate this, we have established a mouse model for renal calcification, designated Rcalc1, and determined its chromosomal l...

Kidney stones, which affect 5% of adults, are most frequently associated with hypercalciuria or hypercalcaemia. Furthermore, kidney stones may occur in families in ∼40% of patients, thereby implicating the involvement of genetic mechanisms. To further elucidate these, we have established a mouse model for renal calcification, designated Rcalc2, and determined its chromosomal localisation. Mice were kept in accordance with UK Home Office welfare guidelines and proj...

GCMB, which is the mammalian homologue of the Drosophila gene Glial cells missing, encodes a 506 amino acid parathyroid-specific transcription factor that contains: a DNA-binding domain at residues 21–174; a predicted nuclear localization signal at residues 176–193; an inhibitory domain at residues 258–347; and two transactivation domains at residues 174–263, and residues 428–506. Mutations of GCMB, which is located on chrom...

Introduction: There are two isoforms of the insulin receptor (IR), generated by the alternative splicing of exon 11 to give IR-A (exon 11-) and IR-B (exon 11+) isoforms. The differing distribution and function of the isoforms has been postulated to play a role in the pathogenesis of diabetes mellitus, myotonic dystrophy and thyroid carcinoma. Previous work investigating IR alternative splicing has identified hormonal factors, splicing elements and factors which modulate the re...

The sodium iodide symporter (NIS) mediates the uptake of iodide into thyroid follicular cells. The pituitary tumor transforming gene (PTTG) is a multifunctional oncogene which stimulates expression of fibroblast growth factor-2 (FGF-2) via PTTG binding factor (PBF). PTTG and FGF-2 inhibit iodide uptake in rat thyroid FRTL5 cells and PTTG and PBF repress NIS mRNA expression and iodide uptake in primary human thyroid cultures. To determine whether this regulation is a direct tra...

The family of adrenergic receptors contains nine different subtypes of G protein-coupled receptors which mediate the biological effects of adrenaline and noradrenaline. With few exceptions, the full therapeutic potential of subtype-selective therapy has not yet been explored for the group of adrenergic receptors. In the absence of sufficiently subtype-selective ligands which can distinguish between individual receptor subtypes of the adrenergic family, gene-targeted mouse mode...

The testis provides stem cell niches which are populated by spermatogonial stem cells. The seminiferous epithelium is the exclusive site where germline cells are proliferating and entering meiosis in the adult organism. The existence of stem cells offers clinically relevant options for preservation and restoration of male fertility. New approaches based on male germ cell transplantation and testicular tissue grafting can be applied to generate sperm. Germ cell transplantation ...

Background and aim: Parathyroid hormone (PTH) measurement is critical to evaluate bone status in patients with chronic renal failure as adynamic bone (AB) and bone with a high turnover (HTB) require different therapeutic options. Since the 2nd generation PTH assays recognise a non 1–84 PTH fragment in addition to the intact 1–84 PTH, a new assay defined as 3rd generation has been commercialised. The aim of this study was to evaluate, in dialysed patients, the rate of...

Background: Before synthetic cortisone was introduced, patients with Addison’s disease prolonged their lives by maintaining a high salt intake and taking plant based containing preparations affecting steroid metabolism. We report the case of someone who discovered this regime for herself.Case report: A 42 year old lady presented with a four week history of decreased energy, malaise, and postural dizziness. She was hyponatraemic (plasma sodium 126 mm...

Exon 1 of AR gene contains a variable number of CAG triplets, which encode a polyglutamine stretch of variable length in the N-terminal domain of the receptor. Experimental evidence has accumulated in demonstrating that the length of this stretch influences AR transcriptional activity and therefore modulates target organs responsiveness to androgens. Aim of our study was to evaluate CAG repeats length [(CAGr)n] in various conditions hypothetically influenced by AR function. 35...